Canonical Allele Identifier: CA326107222
Gene: GPR143 HGNC NCBI

Linked Data

ClinVar Variation Id: 1357186
ClinVar RCV Id: RCV001878234 RCV002482481
dbSNP Id: rs936878316
gnomAD v2: X-9733667-G-A
gnomAD v3: X-9765627-G-A
gnomAD v4: X-9765627-G-A
MyVariant Identifiers: chrX:g.9733667G>A (hg19) chrX:g.9765627G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.9765627G>A , CM000685.2:g.9765627G>A GRCh38
NC_000023.10:g.9733667G>A , CM000685.1:g.9733667G>A GRCh37
NC_000023.9:g.9693667G>A NCBI36
NG_009074.1:g.5251C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000467482.6:c.191C>T MANE Select ENSP00000417161.1:p.Pro64Leu
ENST00000431126.1:c.-3+493C>T ENSP00000406138.1:n.-3+493C>T
ENST00000447366.5:c.-2-4801C>T ENSP00000390546.2:n.-2-4801C>T
ENST00000467482.5:c.191C>T ENSP00000417161.1:p.Pro64Leu
NM_000273.2:c.191C>T NP_000264.2:p.Pro64Leu
XM_005274541.2:c.191C>T XP_005274598.1:p.Pro64Leu
XM_005274541.3:c.191C>T XP_005274598.1:p.Pro64Leu
XM_024452387.1:c.-2-4801C>T XP_024308155.1:n.-2-4801C>T
XM_024452388.1:c.-2-4801C>T XP_024308156.1:n.-2-4801C>T
NM_000273.3:c.191C>T MANE Select NP_000264.2:p.Pro64Leu
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